UniProtKB - Q8TBB5 (KLDC4_HUMAN)
Protein
Kelch domain-containing protein 4
Gene
KLHDC4
Organism
Homo sapiens (Human)
Status
Names & Taxonomyi
Protein namesi | Recommended name: Kelch domain-containing protein 4 |
Gene namesi | Name:KLHDC4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25272, KLHDC4 |
neXtProti | NX_Q8TBB5 |
VEuPathDBi | HostDB:ENSG00000104731.13 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 54758 |
OpenTargetsi | ENSG00000104731 |
PharmGKBi | PA134914472 |
Miscellaneous databases
Pharosi | Q8TBB5, Tdark |
Genetic variation databases
BioMutai | KLHDC4 |
DMDMi | 74730447 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000228998 | 1 – 520 | Kelch domain-containing protein 4Add BLAST | 520 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 413 | PhosphoserineCombined sources | 1 | |
Modified residuei | 418 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8TBB5 |
jPOSTi | Q8TBB5 |
MassIVEi | Q8TBB5 |
MaxQBi | Q8TBB5 |
PaxDbi | Q8TBB5 |
PeptideAtlasi | Q8TBB5 |
PRIDEi | Q8TBB5 |
ProteomicsDBi | 73984 [Q8TBB5-1] 73985 [Q8TBB5-2] 73986 [Q8TBB5-3] |
PTM databases
iPTMneti | Q8TBB5 |
PhosphoSitePlusi | Q8TBB5 |
Expressioni
Gene expression databases
Bgeei | ENSG00000104731, Expressed in sural nerve and 169 other tissues |
ExpressionAtlasi | Q8TBB5, baseline and differential |
Genevisiblei | Q8TBB5, HS |
Organism-specific databases
HPAi | ENSG00000104731, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsQ8TBB5
Isoform 2 [Q8TBB5-2]
Protein-protein interaction databases
BioGRIDi | 120134, 19 interactors |
IntActi | Q8TBB5, 13 interactors |
MINTi | Q8TBB5 |
STRINGi | 9606.ENSP00000270583 |
Miscellaneous databases
RNActi | Q8TBB5, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 77 – 129 | Kelch 1Add BLAST | 53 | |
Repeati | 133 – 187 | Kelch 2Add BLAST | 55 | |
Repeati | 188 – 241 | Kelch 3Add BLAST | 54 | |
Repeati | 243 – 289 | Kelch 4Add BLAST | 47 | |
Repeati | 308 – 361 | Kelch 5Add BLAST | 54 | |
Repeati | 443 – 494 | Kelch 6Add BLAST | 52 |
Keywords - Domaini
Kelch repeat, RepeatPhylogenomic databases
eggNOGi | KOG1230, Eukaryota |
GeneTreei | ENSGT00390000003374 |
HOGENOMi | CLU_008722_3_1_1 |
InParanoidi | Q8TBB5 |
OMAi | KQYIILF |
PhylomeDBi | Q8TBB5 |
TreeFami | TF323290 |
Family and domain databases
Gene3Di | 2.120.10.80, 1 hit |
InterProi | View protein in InterPro IPR015915, Kelch-typ_b-propeller IPR011498, Kelch_2 |
Pfami | View protein in Pfam PF07646, Kelch_2, 2 hits |
SUPFAMi | SSF117281, SSF117281, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8TBB5-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGKKGKKEKK GRGAEKTAAK MEKKVSKRSR KEEEDLEALI AHFQTLDAKR
60 70 80 90 100
TQTVELPCPP PSPRLNASLS VHPEKDELIL FGGEYFNGQK TFLYNELYVY
110 120 130 140 150
NTRKDTWTKV DIPSPPPRRC AHQAVVVPQG GGQLWVFGGE FASPNGEQFY
160 170 180 190 200
HYKDLWVLHL ATKTWEQVKS TGGPSGRSGH RMVAWKRQLI LFGGFHESTR
210 220 230 240 250
DYIYYNDVYA FNLDTFTWSK LSPSGTGPTP RSGCQMSVTP QGGIVVYGGY
260 270 280 290 300
SKQRVKKDVD KGTRHSDMFL LKPEDGREDK WVWTRMNPSG VKPTPRSGFS
310 320 330 340 350
VAMAPNHQTL FFGGVCDEEE EESLSGEFFN DLYFYDATRN RWFEGQLKGP
360 370 380 390 400
KSEKKKRRRG RKEEPEGGSR PACGGAGTQG PVQLVKEVVA EDGTVVTIKQ
410 420 430 440 450
VLTAPGSAGQ PRSEDEDSLE EAGSPAPGPC PRSNAMLAVK HGVLYVYGGM
460 470 480 490 500
FEAGDRQVTL SDLHCLDLHR MEAWKALVEM DPETQEWLEE TDSEEDSEEV
510 520
EGAEGGVDDE DSGEESGAED
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BQH3 | H3BQH3_HUMAN | Kelch domain-containing protein 4 | KLHDC4 | 334 | Annotation score: | ||
H3BV82 | H3BV82_HUMAN | Kelch domain-containing protein 4 | KLHDC4 | 173 | Annotation score: | ||
Q86VH3 | Q86VH3_HUMAN | HCG1980662 | KLHDC4 hCG_1980662 | 291 | Annotation score: | ||
H3BQ90 | H3BQ90_HUMAN | Kelch domain-containing protein 4 | KLHDC4 | 105 | Annotation score: | ||
H3BP99 | H3BP99_HUMAN | Kelch domain-containing protein 4 | KLHDC4 | 86 | Annotation score: | ||
H3BQL0 | H3BQL0_HUMAN | Kelch domain-containing protein 4 | KLHDC4 | 99 | Annotation score: | ||
H3BTB1 | H3BTB1_HUMAN | Kelch domain-containing protein 4 | KLHDC4 | 38 | Annotation score: | ||
H3BUX8 | H3BUX8_HUMAN | Kelch domain-containing protein 4 | KLHDC4 | 44 | Annotation score: | ||
Q9UF94 | Q9UF94_HUMAN | Kelch domain containing 4, isoform ... | KLHDC4 DKFZp434G0522, hCG_20391 | 258 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_033986 | 56 | L → V. Corresponds to variant dbSNP:rs2303772Ensembl. | 1 | |
Natural variantiVAR_050054 | 102 | T → I1 PublicationCorresponds to variant dbSNP:rs2303771Ensembl. | 1 | |
Natural variantiVAR_061340 | 130 | G → V. Corresponds to variant dbSNP:rs34779002Ensembl. | 1 | |
Natural variantiVAR_033987 | 155 | L → V. Corresponds to variant dbSNP:rs3751727Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017728 | 34 – 90 | Missing in isoform 2. 1 PublicationAdd BLAST | 57 | |
Alternative sequenceiVSP_017729 | 170 – 200 | Missing in isoform 3. 1 PublicationAdd BLAST | 31 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | CH471114 Genomic DNA Translation: EAW95377.1 CH471114 Genomic DNA Translation: EAW95378.1 CH471114 Genomic DNA Translation: EAW95379.1 CH471114 Genomic DNA Translation: EAW95381.1 CH471114 Genomic DNA Translation: EAW95382.1 CH471114 Genomic DNA Translation: EAW95383.1 BC001044 mRNA Translation: AAH01044.1 BC011680 mRNA Translation: AAH11680.1 BC022969 mRNA Translation: AAH22969.1 |
CCDSi | CCDS10963.1 [Q8TBB5-1] CCDS54050.1 [Q8TBB5-2] CCDS54051.1 [Q8TBB5-3] |
RefSeqi | NP_001171783.1, NM_001184854.1 [Q8TBB5-2] NP_001171785.1, NM_001184856.1 [Q8TBB5-3] NP_060036.2, NM_017566.3 [Q8TBB5-1] XP_005256051.1, XM_005255994.3 [Q8TBB5-1] XP_016878833.1, XM_017023344.1 [Q8TBB5-1] |
Genome annotation databases
Ensembli | ENST00000270583; ENSP00000270583; ENSG00000104731 [Q8TBB5-1] ENST00000347925; ENSP00000325717; ENSG00000104731 [Q8TBB5-3] ENST00000353170; ENSP00000262530; ENSG00000104731 [Q8TBB5-2] ENST00000567298; ENSP00000457570; ENSG00000104731 [Q8TBB5-1] |
GeneIDi | 54758 |
KEGGi | hsa:54758 |
UCSCi | uc002fki.4, human [Q8TBB5-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | CH471114 Genomic DNA Translation: EAW95377.1 CH471114 Genomic DNA Translation: EAW95378.1 CH471114 Genomic DNA Translation: EAW95379.1 CH471114 Genomic DNA Translation: EAW95381.1 CH471114 Genomic DNA Translation: EAW95382.1 CH471114 Genomic DNA Translation: EAW95383.1 BC001044 mRNA Translation: AAH01044.1 BC011680 mRNA Translation: AAH11680.1 BC022969 mRNA Translation: AAH22969.1 |
CCDSi | CCDS10963.1 [Q8TBB5-1] CCDS54050.1 [Q8TBB5-2] CCDS54051.1 [Q8TBB5-3] |
RefSeqi | NP_001171783.1, NM_001184854.1 [Q8TBB5-2] NP_001171785.1, NM_001184856.1 [Q8TBB5-3] NP_060036.2, NM_017566.3 [Q8TBB5-1] XP_005256051.1, XM_005255994.3 [Q8TBB5-1] XP_016878833.1, XM_017023344.1 [Q8TBB5-1] |
3D structure databases
SMRi | Q8TBB5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120134, 19 interactors |
IntActi | Q8TBB5, 13 interactors |
MINTi | Q8TBB5 |
STRINGi | 9606.ENSP00000270583 |
PTM databases
iPTMneti | Q8TBB5 |
PhosphoSitePlusi | Q8TBB5 |
Genetic variation databases
BioMutai | KLHDC4 |
DMDMi | 74730447 |
Proteomic databases
EPDi | Q8TBB5 |
jPOSTi | Q8TBB5 |
MassIVEi | Q8TBB5 |
MaxQBi | Q8TBB5 |
PaxDbi | Q8TBB5 |
PeptideAtlasi | Q8TBB5 |
PRIDEi | Q8TBB5 |
ProteomicsDBi | 73984 [Q8TBB5-1] 73985 [Q8TBB5-2] 73986 [Q8TBB5-3] |
Protocols and materials databases
Antibodypediai | 30690, 157 antibodies |
Genome annotation databases
Ensembli | ENST00000270583; ENSP00000270583; ENSG00000104731 [Q8TBB5-1] ENST00000347925; ENSP00000325717; ENSG00000104731 [Q8TBB5-3] ENST00000353170; ENSP00000262530; ENSG00000104731 [Q8TBB5-2] ENST00000567298; ENSP00000457570; ENSG00000104731 [Q8TBB5-1] |
GeneIDi | 54758 |
KEGGi | hsa:54758 |
UCSCi | uc002fki.4, human [Q8TBB5-1] |
Organism-specific databases
CTDi | 54758 |
DisGeNETi | 54758 |
GeneCardsi | KLHDC4 |
HGNCi | HGNC:25272, KLHDC4 |
HPAi | ENSG00000104731, Low tissue specificity |
neXtProti | NX_Q8TBB5 |
OpenTargetsi | ENSG00000104731 |
PharmGKBi | PA134914472 |
VEuPathDBi | HostDB:ENSG00000104731.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1230, Eukaryota |
GeneTreei | ENSGT00390000003374 |
HOGENOMi | CLU_008722_3_1_1 |
InParanoidi | Q8TBB5 |
OMAi | KQYIILF |
PhylomeDBi | Q8TBB5 |
TreeFami | TF323290 |
Enzyme and pathway databases
PathwayCommonsi | Q8TBB5 |
Miscellaneous databases
BioGRID-ORCSi | 54758, 7 hits in 994 CRISPR screens |
ChiTaRSi | KLHDC4, human |
GenomeRNAii | 54758 |
Pharosi | Q8TBB5, Tdark |
PROi | PR:Q8TBB5 |
RNActi | Q8TBB5, protein |
Gene expression databases
Bgeei | ENSG00000104731, Expressed in sural nerve and 169 other tissues |
ExpressionAtlasi | Q8TBB5, baseline and differential |
Genevisiblei | Q8TBB5, HS |
Family and domain databases
Gene3Di | 2.120.10.80, 1 hit |
InterProi | View protein in InterPro IPR015915, Kelch-typ_b-propeller IPR011498, Kelch_2 |
Pfami | View protein in Pfam PF07646, Kelch_2, 2 hits |
SUPFAMi | SSF117281, SSF117281, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KLDC4_HUMAN | |
Accessioni | Q8TBB5Primary (citable) accession number: Q8TBB5 Secondary accession number(s): D3DUN3 Q9BVN3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 21, 2006 |
Last sequence update: | June 1, 2002 | |
Last modified: | April 7, 2021 | |
This is version 143 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports